1. Gene
  2. CHCHD3 - coiled-coil-helix-coiled-coil-helix domain containing 3 Gene

CHCHD3 - coiled-coil-helix-coiled-coil-helix domain containing 3 Gene

Homo sapiens

Also known as Mic19; MINOS3; MICOS19; PPP1R22

Gene ID: 54927 | Gene type: protein coding

About CHCHD3

Cytogenetic location: 7q32.3-q33 Genomic coordinates (GRCh38): 7:132,784,870-133,082,090 (from NCBI)

This gene has 6 transcripts (splice variants), 255 orthologues and 1 paralogue. Ubiquitous expression in heart (RPKM 24.9), duodenum (RPKM 14.8) and 25 other tissues.

Summary

The protein encoded by this gene is an inner mitochondrial membrane scaffold protein. Absence of the encoded protein affects the structural integrity of mitochondrial cristae and leads to reductions in ATP production, cell growth, and oxygen consumption. This protein is part of the mitochondrial contact site and cristae organizing system (MICOS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

CHCHD3 Products(3)

mRNA Protein Name
NM_001317177.2 NP_001304106.1 MICOS complex subunit MIC19 isoform 1
NM_001317178.2 NP_001304107.1 MICOS complex subunit MIC19 isoform 3
NM_017812.4 NP_060282.1 MICOS complex subunit MIC19 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables phosphatase binding IDA
IDA: Inferred from direct assay
19389623 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cristae formation IMP
IMP: Inferred from mutant phenotype
25781180 GOA
involved in inner mitochondrial membrane organization IMP
IMP: Inferred from mutant phenotype
21081504 GOA
involved in mitochondrial fusion IMP
IMP: Inferred from mutant phenotype
21081504 GOA
Cellular Component GO Annotation Evidence Reference Source
part of MICOS complex IDA
IDA: Inferred from direct assay
25781180 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
25781180 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHCHD3 Protein Structure

DUF737

DUF737: Protein of unknown function (DUF737) (14 - 175)

  • 0
  • 100
  • 200
  • 227 a.a.
Protein Preferred Names Protein Names

MICOS complex subunit MIC19

coiled-coil-helix-coiled-coil-helix domain-containing protein 3, mitochondrial

CHCHD3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
CHCHD3 Q9NX63 KRT40 Homo sapiens Q6A162 25416956
Intra
CHCHD3 Q9NX63 KRT40 Homo sapiens Q6A162 25416956
Intra
CHCHD3 Q9NX63 PDE4DIP Homo sapiens Q5VU43 25416956
Intra
CHCHD3 Q9NX63 PDE4DIP Homo sapiens Q5VU43 25416956
Intra
CHCHD3 Q9NX63 SHANK3 Homo sapiens Q9BYB0 30021884
Intra
CHCHD3 Q9NX63 SSX2IP Homo sapiens Q9Y2D8 25416956
Intra
CHCHD3 Q9NX63 SSX2IP Homo sapiens Q9Y2D8 25416956
Intra
CHCHD3 Q9NX63 NOTCH2NLC Homo sapiens P0DPK4 32296183
Intra
CHCHD3 Q9NX63 NOTCH2NLC Homo sapiens P0DPK4 32296183
Intra
CHCHD3 Q9NX63 BLZF1 Homo sapiens Q9H2G9 32296183
Intra
CHCHD3 Q9NX63 BLZF1 Homo sapiens Q9H2G9 25416956
Intra
CHCHD3 Q9NX63 BLZF1 Homo sapiens Q9H2G9 25416956
Intra
CHCHD3 Q9NX63 BLZF1 Homo sapiens Q9H2G9 32296183
Intra
CHCHD3 Q9NX63 CHCHD6 Homo sapiens Q9BRQ6 30021884
Intra
CHCHD3 Q9NX63 CHCHD6 Homo sapiens Q9BRQ6 33961781
Intra
CHCHD3 Q9NX63 PPP1CA Homo sapiens P62136 19389623
Intra
CHCHD3 Q9NX63 PPP1CA Homo sapiens P62136 19389623
Intra
CHCHD3 Q9NX63 TRAF1 Homo sapiens Q13077 25416956
Intra
CHCHD3 Q9NX63 TRAF1 Homo sapiens Q13077 25416956
Intra
CHCHD3 Q9NX63 YWHAG Homo sapiens P61981 32814053
Intra
CHCHD3 Q9NX63 YWHAG Homo sapiens P61981 32814053
Intra
CHCHD3 Q9NX63 YWHAG Homo sapiens P61981 32814053
Intra
CHCHD3 Q9NX63 CYSRT1 Homo sapiens A8MQ03 32296183
Intra
CHCHD3 Q9NX63 CYSRT1 Homo sapiens A8MQ03 32296183
Intra
CHCHD3 Q9NX63 KAT5 Homo sapiens Q92993 32814053
Intra
CHCHD3 Q9NX63 KAT5 Homo sapiens Q92993 32814053
Intra
CHCHD3 Q9NX63 KAT5 Homo sapiens Q92993 32814053
Intra
CHCHD3 Q9NX63 SPAG5 Homo sapiens Q96R06 25416956
Intra
CHCHD3 Q9NX63 GOLGA2 Homo sapiens Q08379 25416956
Intra
CHCHD3 Q9NX63 TRIM27 Homo sapiens P14373 25416956
Intra
CHCHD3 Q9NX63 TRIM27 Homo sapiens P14373 25416956
Intra
CHCHD3 Q9NX63 WFS1 Homo sapiens O76024 32814053
Intra
CHCHD3 Q9NX63 WFS1 Homo sapiens O76024 32814053
Intra
CHCHD3 Q9NX63 WFS1 Homo sapiens O76024 32814053
Intra
CHCHD3 Q9NX63 CEP72 Homo sapiens Q9P209 32296183
Intra
CHCHD3 Q9NX63 CEP72 Homo sapiens Q9P209 32296183
Intra
CHCHD3 Q9NX63 CEP72 Homo sapiens Q9P209 32296183
Intra
CHCHD3 Q9NX63 CALCOCO2 Homo sapiens Q13137 25416956
Intra
CHCHD3 Q9NX63 CALCOCO2 Homo sapiens Q13137 25416956
Intra
CHCHD3 Q9NX63 CCDC85B Homo sapiens Q15834 16189514
Intra
CHCHD3 Q9NX63 LZTS2 Homo sapiens Q9BRK4 25416956
Intra
CHCHD3 Q9NX63 LZTS2 Homo sapiens Q9BRK4 25416956
Intra
CHCHD3 Q9NX63 GMCL2 Homo sapiens Q8NEA9 25416956
Intra
CHCHD3 Q9NX63 RAB3IP Homo sapiens Q96QF0 25416956
Intra
CHCHD3 Q9NX63 SAMM50 Homo sapiens Q9Y512 33961781
Intra
CHCHD3 Q9NX63 SAMM50 Homo sapiens Q9Y512 32296183
Intra
CHCHD3 Q9NX63 SETDB1 Homo sapiens Q15047-2 32814053
Intra
CHCHD3 Q9NX63 SETDB1 Homo sapiens Q15047-2 32814053
Intra
CHCHD3 Q9NX63 SETDB1 Homo sapiens Q15047-2 32814053
Intra
CHCHD3 Q9NX63 NOTCH2NLA Homo sapiens Q7Z3S9 25416956
Intra
CHCHD3 Q9NX63 NOTCH2NLA Homo sapiens Q7Z3S9 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 37

COXPD37

Barth Syndrome

3-Methylglutaconic Aciduria Type 2

BTHS

Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria

Mga Type Ii

Mga2

Mgca2

Mga Type 2

3-Methylglutaconic Aciduria Type Ii

3-Methylglutaconic Aciduria, Type Ii

Mga, Type Ii

3-Methylglutaconicaciduria Type 2

3-Methylglutaconicaciduria Type Ii

Taz Defect

3 Methylglutaconic Aciduria, Type Ii

Dnajc19 Defect

Cardioskeletal Myopathy-Neutropenia Syndrome

X-Linked Cardioskeletal Myopathy And Neutropenia

3-Alpha-Methylglutaconic Aciduria Type 2

Agm2

Cardioskeletal Myopathy-Neutropenia

Invm

Left Ventricular Non-Compaction Isolated X-Linked

Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked

Agammaglobulinemia 2, Autosomal Recessive

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus CHCHD3 VGNC VGNC:60839
Mus musculus CHCHD3 MGD MGI:1913325
Canis familiaris CHCHD3 VGNC VGNC:39195
Bos taurus CHCHD3 VGNC VGNC:27272
Rattus norvegicus CHCHD3 RGD RGD:1310325
Macaca mulatta CHCHD3 VGNC VGNC:80860